Somatic mutations in the neurofibromatosis 1 gene in human tumors.

doi:10.1016/0092-8674(92)90408-5

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Article

Somatic mutations in the neurofibromatosis 1 gene in human tumors.

Cell - 17 Apr 1992

Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, Ward K, Friedman E, Samowitz W, Robertson M

Abstract excerpt

The neurofibromatosis 1 (NF1) gene product, neurofibromin, contains a GTPase-activating protein (GAP)-related domain, or NF1 GRD, that is able to down-regulate p21ras by stimulating its intrinsic GTPase. Since p21ras.GTP is a major regulator of growth and differentiation, mutant neurofibromins resulting from somatic mutations in the NF1 gene might interfere with ras signaling pathways and contribute to the...

Topics

Adenocarcinoma
Aged
Aged, 80 and over
Astrocytoma
Base Sequence
Colonic Neoplasms
Female
GTPase-Activating Proteins
Genes, Neurofibromatosis 1
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Myelodysplastic Syndromes

Neurofibromatosis 1

Neurofibromin 1

Proteins

ras GTPase-Activating Proteins

Source

Open in PubMed

Identifiers

PMID: 1568247
DOI: 10.1016/0092-8674(92)90408-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1568247-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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